Variant report

Variant	rs538154686
Chromosome Location	chr19:45226377-45226378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr19:45225157-45229529	A549	lung:	n/a	chr19:45228544-45228554
2	SP1	chr19:45225157-45226456	A549	lung:	n/a	chr19:45225460-45225481
3	EP300	chr19:45225199-45226453	A549	lung:	n/a	chr19:45225791-45225805
4	CTCF	chr19:45226352-45226403	LNCaP	prostate:	n/a	n/a
5	RUNX3	chr19:45225202-45226398	GM12878	blood:	n/a	chr19:45225524-45225539
6	SPI1	chr19:45225303-45226401	GM12878	blood:	n/a	chr19:45225790-45225803 chr19:45225789-45225802 chr19:45226029-45226042 chr19:45225792-45225801
7	E2F6	chr19:45225214-45226439	A549	lung:	n/a	n/a
8	MAX	chr19:45225179-45226422	A549	lung:	n/a	n/a
9	MAX	chr19:45225155-45229503	A549	lung:	n/a	chr19:45227299-45227308
10	BCL3	chr19:45225204-45226446	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:45221363..45224065-chr19:45224767..45227210,2	K562	blood:
2	chr19:45218763..45223660-chr19:45224514..45229778,7	MCF-7	breast:
3	chr19:45222394..45233722-chr19:45248498..45258065,33	MCF-7	breast:
4	chr19:45225977..45229146-chr19:45231463..45233615,4	MCF-7	breast:
5	chr19:45224693..45226623-chr19:45263139..45265924,2	K562	blood:
6	chr19:45225615..45227303-chr19:45305685..45307251,2	MCF-7	breast:
7	chr19:45226238..45228796-chr19:45349593..45352050,3	MCF-7	breast:
8	chr19:45225838..45229249-chr19:45276158..45277958,4	MCF-7	breast:
9	chr19:45225929..45228850-chr19:45345797..45349364,6	MCF-7	breast:
10	chr19:45196825..45199770-chr19:45225839..45228491,3	MCF-7	breast:
11	chr19:45222128..45223998-chr19:45225883..45227558,2	MCF-7	breast:
12	chr19:45219202..45222922-chr19:45224477..45228949,4	K562	blood:

Variant related genes	Relation type
ENSG00000266903	TF binding region
ENSG00000130202	Chromatin interaction
ENSG00000266903	Chromatin interaction
ENSG00000069399	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912116	chr19:45146103-45298069	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv833841	chr19:45208486-45308043	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	esv3335183	chr19:45225161-45253316	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45222000-45226600	Enhancers	Liver	Liver
2	chr19:45222400-45227000	Weak transcription	NHEK	skin
3	chr19:45222600-45226800	Weak transcription	Esophagus	oesophagus
4	chr19:45222600-45226800	Weak transcription	HMEC	breast
5	chr19:45222600-45227000	Weak transcription	Small Intestine	intestine
6	chr19:45222600-45227000	Weak transcription	HSMM	muscle
7	chr19:45222600-45227400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr19:45222600-45227400	Weak transcription	Psoas Muscle	Psoas
9	chr19:45222600-45227400	Weak transcription	NHDF-Ad	bronchial
10	chr19:45222800-45226800	Weak transcription	Left Ventricle	heart
11	chr19:45222800-45226800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr19:45222800-45226800	Weak transcription	NHLF	lung
13	chr19:45222800-45227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:45222800-45227000	Weak transcription	Fetal Kidney	kidney
15	chr19:45222800-45227400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:45222800-45227400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:45222800-45227400	Weak transcription	HSMMtube	muscle
18	chr19:45222800-45227400	Weak transcription	NH-A	brain
19	chr19:45222800-45227600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:45222800-45227800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:45222800-45228600	Weak transcription	Ovary	ovary
22	chr19:45222800-45231400	Weak transcription	Fetal Lung	lung
23	chr19:45223600-45228600	Enhancers	Primary hematopoietic stem cells	blood
24	chr19:45223800-45229200	Enhancers	Spleen	Spleen
25	chr19:45224000-45226600	Enhancers	Hela-S3	cervix
26	chr19:45224000-45228600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr19:45224000-45229200	Enhancers	Placenta	Placenta
28	chr19:45224400-45226400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:45224400-45226600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr19:45224400-45227000	Enhancers	Stomach Mucosa	stomach
31	chr19:45224400-45229200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr19:45224600-45226800	Weak transcription	Pancreas	Pancrea
33	chr19:45224600-45227400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr19:45224600-45228600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:45225000-45226600	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr19:45225000-45227400	Weak transcription	Osteobl	bone
37	chr19:45225000-45229000	Enhancers	Fetal Thymus	thymus
38	chr19:45225000-45229200	Enhancers	Adipose Nuclei	Adipose
39	chr19:45225000-45229400	Enhancers	Fetal Muscle Trunk	muscle
40	chr19:45225200-45226400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr19:45225200-45226400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr19:45225200-45226400	Flanking Active TSS	A549	lung
43	chr19:45225200-45226400	Enhancers	K562	blood
44	chr19:45225200-45226800	Enhancers	Fetal Intestine Small	intestine
45	chr19:45225200-45227600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr19:45225200-45228800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr19:45225200-45229000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr19:45225200-45229200	Enhancers	Primary B cells from peripheral blood	blood
49	chr19:45225200-45230000	Enhancers	Primary B cells from cord blood	blood
50	chr19:45225200-45230600	Enhancers	Fetal Intestine Large	intestine

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